catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117126950GGA/G


CFTR-NGS Variant details:
Name NM_000492.4:c.53+6770_53+6771delGA
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117126971_117126972del    UCSC    
#Exon/intron intron 1
Type in CFTR-NGS catalogue microsatellite
Class in CFTR-France not reported
WT sequence GCGGGGAGAGAGAGAGAGAGAGAGA GA TTTGAAAGACATTTAGGAGGTAAAA
Mutant sequence GCGGGGAGAGAGAGAGAGAGAGAGA -- TTTGAAAGACATTTAGGAGGTAAAA


Additional information:
MAF (GnomAD) 1.87e-05
Splicing prediction (SpliceAI) AG: 0.00 (39)
AL: 0.00 (42)
DG: 0.00 (-28)
DL: 0.00 (41)




External sources:

Not found
Not found		dbSNP
no rs
Not found

Variant validation:
Sanger
(present/not present/not verified)
 Minigene
(effect/no effect/not performed)
not verifiednot performed



No patient found in CFTR-France


12 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 12
Asymptomatic 3
CF 3
CFTR-RD2
  • CFTR-RD  2
Suspicion of CF 4



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m2761AsymptomaticMontpellier230414_varilhheterozygous PASS 297 36
m9947AsymptomaticMontpellier150419_Altieriheterozygous LowVariantFreq 354 143
m9946AsymptomaticMontpellier150419_Altieriheterozygous LowVariantFreq 238 94
18MU01177CFCochin150419_Altieriheterozygous LowVariantFreq 251 151
P2BCFMontpellier230414_varilhheterozygous PASS 149 33
P1BCFMontpellier230414_varilhheterozygous PASS 164 50
P1CoCFTR-RDMontpellier230414_varilhnot defined PASS 220 67
16MU00510CFTR-RDCochin150419_Altieriheterozygous LowVariantFreq 298 149
P4CrSuspicion of CFMontpellier230414_varilhheterozygous PASS 370 65
P7CrSuspicion of CFMontpellier230414_varilhheterozygous PASS 182 42
m10080Suspicion of CFMontpellier150419_Altieriheterozygous PASS 245 135
8Suspicion of CFMontpellier150517_varilhheterozygous LowVariantFreq 663 402





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